Variant report

Variant	rs1018124
Chromosome Location	chr2:234676118-234676119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10929293	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12052787	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12053462	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs12463641	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12463910	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12466747	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs12466779	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12466997	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12468274	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12468356	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12468543	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12472689	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs12474215	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs12474980	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs12475068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12475934	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12476197	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs12477216	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12479045	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12479208	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1604144	0.81[JPT][hapmap]
rs17862857	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs17862867	0.93[ASN][1000 genomes]
rs17862868	0.82[ASN][1000 genomes]
rs17862869	0.84[ASN][1000 genomes]
rs17862870	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs17862871	0.93[ASN][1000 genomes]
rs17862872	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17862878	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17863790	0.93[ASN][1000 genomes]
rs17863791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17863792	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs17863798	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17864686	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs17864696	0.93[ASN][1000 genomes]
rs17864697	0.99[ASN][1000 genomes]
rs17864705	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17868325	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs17868333	0.93[ASN][1000 genomes]
rs17868334	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs17868335	0.93[ASN][1000 genomes]
rs17868342	1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs17874943	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2003569	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2011219	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2011425	0.82[ASN][1000 genomes]
rs2012736	0.82[ASN][1000 genomes]
rs2013018	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs2013021	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs2013030	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs2602381	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs2885295	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs28898595	0.93[ASN][1000 genomes]
rs28898596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs28898605	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs28898615	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28898621	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28899186	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28899187	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28899189	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28899191	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28946877	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs3732217	0.81[ASN][1000 genomes]
rs3732218	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs3732219	0.93[ASN][1000 genomes]
rs3732220	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs3732221	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs3755320	0.93[ASN][1000 genomes]
rs3755321	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs3755322	0.93[ASN][1000 genomes]
rs3755323	0.93[ASN][1000 genomes]
rs3771342	1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.99[ASN][1000 genomes]
rs3796088	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3806591	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs3806593	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs3806594	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs3806595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3892170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3893334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4233633	0.87[JPT][hapmap]
rs4485562	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs4556969	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs4663325	0.87[JPT][hapmap]
rs4663326	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.92[ASN][1000 genomes]
rs4663327	0.87[JPT][hapmap]
rs4663871	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs4663877	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs4663945	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs4663964	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4663966	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4663968	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5020121	0.93[ASN][1000 genomes]
rs62191916	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62191917	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62191918	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6751673	0.81[JPT][hapmap]
rs6753317	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs7420193	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs904855	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs904856	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv1811811	chr2:234633964-234709430	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234669200-234683800	Weak transcription	Gastric	stomach
2	chr2:234672800-234685400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:234673600-234676400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:234673800-234676200	Weak transcription	Liver	Liver
5	chr2:234673800-234676400	Weak transcription	NHEK	skin
6	chr2:234673800-234681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:234673800-234683800	Weak transcription	Colonic Mucosa	Colon
8	chr2:234675200-234676400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:234675400-234676400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:234675400-234676800	Weak transcription	Esophagus	oesophagus
11	chr2:234675400-234677600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:234675400-234682400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:234675600-234676200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:234675600-234676200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:234675600-234683600	Weak transcription	A549	lung

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